Origins and mechanisms leading to aneuploidy in human eggs.
Origins and mechanisms leading to aneuploidy in human eggs.
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DOI：
10.1002/pd.5927
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发表时间：
2021-04
影响因子：
3
通讯作者：
Xing J
中科院分区：
文献类型：
--
作者：
Wartosch L;Schindler K;Schuh M;Gruhn JR;Hoffmann ER;McCoy RC;Xing J
染色体的获得或丢失--或非整倍体--是人类不孕和妊娠丧失的主要诱因之一。这些染色体异常影响年龄谱两端的妇女中超过40%的卵子，即年轻女孩和高龄妇女。最近利用基因组学、细胞遗传学和电子计算机模型对人类卵母细胞和胚胎进行的研究，都为了解不同发育阶段非整倍体的发生率和潜在的遗传和细胞因素提供了新的见解。在这里，我们回顾了最近的研究，这些研究揭示了整个女性生殖寿命中卵母细胞和胚胎中染色体错误分离的潜在分子机制。关于这个话题，我们知道些什么？非整倍体是临床前和产前胎儿丢失以及活产儿先天性疾病的主要原因。非整倍体高度依赖于产妇年龄，尤其是高龄产妇。非整倍体主要来自母亲。这项研究增加了什么？非整倍体起源于卵母细胞和植入前胚胎。非整倍体与女性年龄呈U型曲线关系。讨论了导致非整倍体的新的细胞和分子机制，包括建模方法。
The gain or loss of a chromosome—or aneuploidy—acts as one of the major triggers for infertility and pregnancy loss in humans. These chromosomal abnormalities affect more than 40% of eggs in women at both ends of the age spectrum, that is, young girls as well as women of advancing maternal age. Recent studies in human oocytes and embryos using genomics, cytogenetics, and in silico modeling all provide new insight into the rates and potential genetic and cellular factors associated with aneuploidy at varying stages of development. Here, we review recent studies that are shedding light on potential molecular mechanisms of chromosome missegregation in oocytes and embryos across the entire female reproductive life span. What is known about this topic? Aneuploidy is a major cause of preclinical and prenatal fetal losses and congenital disorders in live born. Aneuploidy is highly dependent upon maternal age, especially advanced maternal age. Aneuploidy is predominantly from the mother. What does this study add? Aneuploidy originates from oocytes and preimplantation embryos. Aneuploidy follows a U curve with female age. New cellular and molecular mechanisms causing aneuploidies are discussed, including modelling approaches.
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DOI：
10.1016/j.cub.2015.12.073
发表时间：
2016-03-07
期刊：
Current biology : CB
影响因子：
--
作者：
Burkhardt S;Borsos M;Szydlowska A;Godwin J;Williams SA;Cohen PE;Hirota T;Saitou M;Tachibana-Konwalski K
通讯作者：
Tachibana-Konwalski K
PATL2 的双等位基因突变导致女性不孕，其特征是卵母细胞成熟停滞
影响因子：
9.8
作者：
Chen, Biaobang;Zhang, Zhihua;Wang, Lei
通讯作者：
Wang, Lei
影响因子：
6.1
作者：
ANGELL, RR;LEDGER, W;BAIRD, DT
通讯作者：
BAIRD, DT
影响因子：
5.3
作者：
HASSOLD, T;CHIU, D
通讯作者：
CHIU, D
影响因子：
1.9
作者：
HASSOLD, T;JACOBS, P;WARBURTON, D
通讯作者：
WARBURTON, D